A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533421



Internal ID15509236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:71551509..71622849hg38UCSC Ensembl
Innerchr13:72125641..72196981hg19UCSC Ensembl
Innerchr13:71023642..71094982hg18UCSC Ensembl
Innerchr13:71023642..71094982hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3871341
hg1971341
hg1871341
hg1771341
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455981
Supporting Variants
SamplesHGDP00963
Known GenesDACH1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv533421
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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